Young Women From BRCA1/2 Families: A Family History And A Future

来自 BRCA1/2 家庭的年轻女性：家族史和未来

• 批准号: 8930928
• 负责人: Suzanne C. O'Neill
• 金额: $ 7.78万
• 依托单位: GEORGETOWN UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-22 至 2016-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8930928
• 关键词: Address; Adult; Affect; Affective; Age; Area; BRCA1 gene; Cancer Family; Caring; Clinical; Clinical Research; Clinical Trials; Cognition; Counseling; DNA Sequence Alteration; Data; Decision Making; Development; Disadvantaged; Disease; Distress; Early Diagnosis; Emotional; Emotions; Environmental Risk Factor; Face; Family; Family Cancer History; Female; Foundations; Future; Generations; Genetic; Genetic Counseling; Genetic Predisposition to Disease; Genetic Risk; Genetic screening method; Guidelines; Health; Health behavior; Hereditary Breast and Ovarian Cancer Syndrome; High-Risk Cancer; Interview; Knowledge; Life; Likelihood Functions; Literature; Magnetic Resonance Imaging; Malignant Neoplasms; Malignant neoplasm of ovary; Mammography; Mediating; Medical; Methods; Motivation; Mutation; Operative Surgical Procedures; Outcome; Outcome Study; Participant; Patient Education; Phase; Physicians; Plague; Population; Process; Provider; Publishing; Recording of previous events; Recruitment Activity; Relative (related person); Relative Risks; Research; Resources; Risk; Risk Management; Second Degree Relative; Surveys; Test Result; Testing; Time; Ultrasonography; Uncertainty; Woman; Work; aged; cancer genetics; cancer risk; cohort; coping; experience; genetic registry; indexing; intergenerational; lifetime risk; male; malignant breast neoplasm; men; mutation carrier; premature; programs; psychologic; psychosocial; resilience; response; screening; standard of care; theories; uptake; young woman

DESCRIPTION (provided by applicant): BRCA1/2 mutation carriers have highly elevated odds of developing HBOC, as may their first- and second- degree relatives. Guidelines suggest that BRCA1/2 testing for these young relatives should not begin before age 18 due to limited medical benefit and potential psychosocial harm. In contrast, testing for women over age 25 is recommended as standard of care. Testing for women aged 18-25 presents a clinical dilemma. Testing at this young age could offer the advantage of providing definitive genetic risk information, allowing the opportunity to take a proactive stance to life planning. However, risk management strategies come with distinct disadvantages at this age. These include an increase of breast cancer risk associated with mammography in carriers prior to age 30. Young women face these advantages and disadvantages with limited decision making experience and decision processes that are more prone to affective biases than their older counterparts. Our ongoing qualitative work with providers suggests these emotional and developmental factors make counseling these women unique and challenging. The present application addresses the clinical dilemma that faces these young women and their providers. Guided by the Theory of Genetic Vulnerability, we will leverage our cancer genetic registry and clinical research program in a mixed-methods study of women age 18-25 with a first- or second-degree relative who is a BRCA1/2 carrier. Our resources contain well-characterized data about our large cohort of women and men with a known mutation ("index carrier"). These data include not only data regarding age of testing, affected status, and risk management decisions, but also psychosocial data such as distress. We will combine these secondary data with new primary data collected from young female relatives to assess variables associated with their likelihood to test. In Phase I, we will use these quantitative data to assess the relationship between a young woman's cancer family history and cancer-related emotions and cognitions on her likelihood to test. We also will assess the mediational effects of index carrier's psychosocial functioning and health behaviors on this relationship. In Phase II, we will follow our quantitative work with qualitative interviews of 20 tested women and their physicians. These interviews will allow us to determine how receipt of a genetic test result affects the psychosocial tasks of development and medical care of young female HBOC relatives from the perspective of tested young women and their providers. Our work would allow for targeted approaches to patient education and counseling in this population.

描述（由申请人提供）：BRCA1/2突变携带者发生HBOC的几率很高，他们的一级和二级亲属也是如此。指南建议，这些年轻亲属的BRCA1/2检测不应在18岁之前开始，因为医疗效益有限，而且有潜在的社会心理危害。相比之下，25岁以上女性的检测被推荐为标准护理。对18-25岁的女性进行检测是一个临床难题。在这么小的年龄进行检测，可以提供明确的遗传风险信息，从而有机会对人生规划采取积极主动的立场。然而，风险管理策略在这个年龄有明显的缺点。其中包括在30岁之前的携带者中，与乳房x光检查相关的乳腺癌风险增加。面对这些优势和劣势，年轻女性的决策经验有限，决策过程比年长女性更容易产生情感偏见。我们正在进行的与服务提供者的定性工作表明，这些情感和发展因素使这些妇女的咨询独特而富有挑战性。目前的应用程序解决了这些年轻妇女和她们的提供者面临的临床困境。在遗传易感性理论的指导下，我们将利用我们的癌症遗传登记和临床研究项目，对年龄在18-25岁的女性进行混合方法研究，她们的一级或二级亲属是BRCA1/2携带者。我们的资源包含了大量已知突变（“指数携带者”）的女性和男性的特征数据。这些数据不仅包括有关检测年龄、受影响状况和风险管理决策的数据，还包括诸如痛苦等社会心理数据。我们将把这些次要数据与从年轻女性亲属那里收集的新的主要数据结合起来，评估与测试可能性相关的变量。在第一阶段，我们将使用这些定量数据来评估年轻女性癌症家族史与癌症相关情绪和认知之间的关系。我们还将评估指数携带者的心理社会功能和健康行为对这种关系的中介作用。在第二阶段，我们将在定量工作之后，对20名接受测试的妇女及其医生进行定性访谈。这些访谈将使我们能够从接受检测的年轻女性及其提供者的角度确定接受基因检测结果如何影响年轻女性HBOC亲属的发展和医疗保健的心理社会任务。我们的工作将为这一人群提供有针对性的患者教育和咨询。